Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:P4ha3'

503334

Institutional Source

Beutler Lab

Gene Symbol

P4ha3

Ensembl Gene

ENSMUSG00000051048

Gene Name

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III

Synonyms

D930031A02Rik

MMRRC Submission

044343-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6209 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

99934727-99968906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99966292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 479 (G479V)

Ref Sequence

ENSEMBL: ENSMUSP00000055297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057023] [ENSMUST00000139790]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057023
AA Change: G479V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: G479V

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:P4Ha_N	31	159	1.4e-31	PFAM
SCOP:d1ihga1	177	258	8e-4	SMART
P4Hc	344	526	1.08e-50	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000138465
AA Change: G324V

SMART Domains

Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048
AA Change: G324V

Domain	Start	End	E-Value	Type
PDB:4BTB\|A	1	141	7e-17	PDB
SCOP:d1ihga1	44	125	4e-4	SMART
P4Hc	211	372	4.89e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139790

SMART Domains

Protein: ENSMUSP00000117015
Gene: ENSMUSG00000051048

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208565

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,232,670 (GRCm39)	M990L	probably benign	Het
Agl	A	T	3: 116,578,845 (GRCm39)	Y429*	probably null	Het
Ahnak	A	T	19: 8,989,930 (GRCm39)	K3738M	probably damaging	Het
Amn	G	T	12: 111,241,845 (GRCm39)	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,912,318 (GRCm39)	V113I	probably benign	Het
Arhgef28	A	T	13: 98,065,917 (GRCm39)		probably null	Het
Atad2	A	G	15: 57,981,811 (GRCm39)	S18P	probably damaging	Het
Bhmt1b	C	T	18: 87,775,341 (GRCm39)	A288V	probably damaging	Het
C4b	T	A	17: 34,960,061 (GRCm39)	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,726,095 (GRCm39)	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,519,230 (GRCm39)	V366D	possibly damaging	Het
Cdk17	A	T	10: 93,044,093 (GRCm39)	T11S	probably benign	Het
Cenpc1	A	G	5: 86,181,509 (GRCm39)	S619P	probably benign	Het
Clec4d	T	G	6: 123,247,488 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,617,402 (GRCm39)	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677 (GRCm39)	K528R	probably benign	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069 (GRCm39)	V262A	probably damaging	Het
Galnt17	T	A	5: 131,110,434 (GRCm39)	M302L	probably benign	Het
Gpn3	T	C	5: 122,520,175 (GRCm39)	I243T	probably benign	Het
Gpr160	T	C	3: 30,950,141 (GRCm39)	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,244,946 (GRCm39)	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H60b	C	A	10: 22,163,043 (GRCm39)	T206N	probably benign	Het
Hydin	A	T	8: 111,320,434 (GRCm39)	I4493F	probably benign	Het
Il19	C	T	1: 130,866,852 (GRCm39)	E43K	possibly damaging	Het
Ints2	A	G	11: 86,115,884 (GRCm39)	Y782H	probably damaging	Het
Itprid1	T	A	6: 55,851,306 (GRCm39)	I62N	probably damaging	Het
Jph1	C	A	1: 17,167,810 (GRCm39)	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,726,852 (GRCm39)	I62V	probably damaging	Het
Map7	G	A	10: 20,152,026 (GRCm39)		probably null	Het
Matk	T	G	10: 81,095,422 (GRCm39)	W81G	probably damaging	Het
Matn4	T	C	2: 164,242,735 (GRCm39)	Y121C	probably damaging	Het
Mical2	G	A	7: 111,923,293 (GRCm39)		probably null	Het
Miga2	T	G	2: 30,271,674 (GRCm39)	Y399D	probably damaging	Het
Mocos	A	T	18: 24,799,672 (GRCm39)	E302V	probably benign	Het
Mrpl11	C	T	19: 5,014,743 (GRCm39)	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,209,001 (GRCm39)	Y108D	probably damaging	Het
Mtr	A	G	13: 12,205,278 (GRCm39)	S1061P	probably benign	Het
Myh11	T	A	16: 14,026,155 (GRCm39)	K1309*	probably null	Het
Myom2	G	A	8: 15,154,173 (GRCm39)	V704I	possibly damaging	Het
Nars2	A	G	7: 96,706,728 (GRCm39)	H413R	probably benign	Het
Nckap1	A	G	2: 80,355,946 (GRCm39)	L619P	probably damaging	Het
Notch1	T	C	2: 26,362,817 (GRCm39)	N983S	probably damaging	Het
Nup210	A	G	6: 91,002,337 (GRCm39)	V717A	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phf11a	A	G	14: 59,525,028 (GRCm39)	S59P	probably damaging	Het
Phyhip	G	A	14: 70,700,798 (GRCm39)	S95N	probably benign	Het
Ppat	A	G	5: 77,065,993 (GRCm39)	V375A	probably benign	Het
Prkdc	A	G	16: 15,608,456 (GRCm39)	E3086G	probably damaging	Het
Psg22	A	G	7: 18,453,599 (GRCm39)	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,453,610 (GRCm39)	K1013*	probably null	Het
Retreg3	C	T	11: 101,010,526 (GRCm39)	G27D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,431,369 (GRCm39)		probably null	Het
Septin10	T	C	10: 59,006,670 (GRCm39)	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,863,429 (GRCm39)	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,367,119 (GRCm39)	M84K	probably damaging	Het
Shoc1	A	G	4: 59,043,869 (GRCm39)	*1482R	probably null	Het
Skint11	A	G	4: 114,101,907 (GRCm39)	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,227,557 (GRCm39)	V459I	probably benign	Het
Smarca2	T	G	19: 26,748,404 (GRCm39)	Y126*	probably null	Het
Stab2	T	G	10: 86,758,867 (GRCm39)	N1024H	possibly damaging	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Svep1	A	C	4: 58,128,869 (GRCm39)	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068 (GRCm39)	T671I	probably damaging	Het
Thoc5	T	C	11: 4,855,697 (GRCm39)	I82T	probably damaging	Het
Tmem213	G	T	6: 38,092,517 (GRCm39)	C83F	probably damaging	Het
Topaz1	G	A	9: 122,579,570 (GRCm39)	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,050,646 (GRCm39)	G265V	possibly damaging	Het
Ttn	A	G	2: 76,539,808 (GRCm39)	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442 (GRCm39)	Q1201K	probably benign	Het
Zfp354a	T	A	11: 50,951,815 (GRCm39)		probably null	Het
Zfp418	T	C	7: 7,185,096 (GRCm39)	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,192,948 (GRCm39)		probably benign	Het
Zfp503	C	A	14: 22,035,778 (GRCm39)	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,088,462 (GRCm39)	K764E	probably damaging	Het

Other mutations in P4ha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:P4ha3	APN	7	99,955,140 (GRCm39)	missense	probably damaging	1.00
IGL01875:P4ha3	APN	7	99,949,859 (GRCm39)	missense	probably damaging	0.97
IGL02265:P4ha3	APN	7	99,943,139 (GRCm39)	missense	probably benign
IGL02957:P4ha3	APN	7	99,968,112 (GRCm39)	splice site	probably benign
IGL03279:P4ha3	APN	7	99,949,893 (GRCm39)	missense	probably damaging	1.00
R0006:P4ha3	UTSW	7	99,968,155 (GRCm39)	nonsense	probably null
R0880:P4ha3	UTSW	7	99,955,116 (GRCm39)	missense	probably benign	0.06
R1066:P4ha3	UTSW	7	99,967,270 (GRCm39)	missense	possibly damaging	0.77
R1118:P4ha3	UTSW	7	99,962,535 (GRCm39)	missense	probably damaging	0.99
R1119:P4ha3	UTSW	7	99,962,535 (GRCm39)	missense	probably damaging	0.99
R1236:P4ha3	UTSW	7	99,943,056 (GRCm39)	missense	probably damaging	1.00
R1613:P4ha3	UTSW	7	99,962,457 (GRCm39)	missense	possibly damaging	0.95
R1778:P4ha3	UTSW	7	99,949,898 (GRCm39)	splice site	probably null
R2042:P4ha3	UTSW	7	99,949,897 (GRCm39)	critical splice donor site	probably null
R3437:P4ha3	UTSW	7	99,934,831 (GRCm39)	missense	possibly damaging	0.93
R4393:P4ha3	UTSW	7	99,954,814 (GRCm39)	missense	probably benign	0.06
R5411:P4ha3	UTSW	7	99,943,022 (GRCm39)	missense	probably damaging	1.00
R5722:P4ha3	UTSW	7	99,955,198 (GRCm39)	missense	probably benign	0.03
R6462:P4ha3	UTSW	7	99,963,873 (GRCm39)	missense	probably damaging	1.00
R6606:P4ha3	UTSW	7	99,954,851 (GRCm39)	missense	probably damaging	0.99
R7578:P4ha3	UTSW	7	99,943,121 (GRCm39)	missense	probably benign	0.02
R7769:P4ha3	UTSW	7	99,934,924 (GRCm39)	missense	probably damaging	0.97
R8031:P4ha3	UTSW	7	99,941,905 (GRCm39)	missense	probably damaging	1.00
R8090:P4ha3	UTSW	7	99,949,859 (GRCm39)	missense	probably damaging	0.97
R8296:P4ha3	UTSW	7	99,966,309 (GRCm39)	missense	probably damaging	1.00
R8379:P4ha3	UTSW	7	99,942,986 (GRCm39)	missense	probably damaging	0.99
R8501:P4ha3	UTSW	7	99,962,562 (GRCm39)	missense	probably damaging	1.00
R8516:P4ha3	UTSW	7	99,963,869 (GRCm39)	missense	probably damaging	0.97
R8692:P4ha3	UTSW	7	99,955,228 (GRCm39)	missense	probably damaging	0.99
RF033:P4ha3	UTSW	7	99,960,017 (GRCm39)	frame shift	probably null
Z1177:P4ha3	UTSW	7	99,942,995 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- CATCAAGATGGTAGCCAGAAGC -3'
(R):5'- TGACAGGAATGGAAGGTTGTCC -3'

Sequencing Primer
(F):5'- GGGATCCTAAACCCCATCTCGTG -3'
(R):5'- TGCTTCAAGTAGAGGGTG -3'

Posted On

2018-02-27